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Variant : CV153914 (GRCh38/hg38 7q34-35(chr7:141126407-145652221)x3) Homo sapiens

Symbol: CV153914
Name: GRCh38/hg38 7q34-35(chr7:141126407-145652221)x3
Condition: See cases [RCV000133645]
Clinical Significance: pathogenic
Last Evaluated: 09/18/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AGK   ARHGEF35   ARHGEF35-AS1   ARHGEF5   CASP2   CLCN1   CLEC5A   CTAGE15   CTAGE4   CTAGE6   CTAGE8   DENND11   EPHA1   EPHA1-AS1   EPHB6   FAM131B   GSTK1   KEL   LLCFC1   MGAM   MGAM2   MIR11400   MIR6892   MTRNR2L6   NOBOX   OR10AC1   OR2A1   OR2A1-AS1   OR2A12   OR2A14   OR2A2   OR2A25   OR2A42   OR2A5   OR2A7   OR2F1   OR2F2   OR6B1   OR6V1   OR9A2   OR9A4   PIP   PRSS1   PRSS2   PRSS37   PRSS58   SSBP1   TAS2R3   TAS2R38   TAS2R39   TAS2R4   TAS2R40   TAS2R41   TAS2R5   TAS2R60   TCAF1   TCAF2   TMEM139   TMEM178B   TPK1   TRB   TRBC1   TRBC2   TRBD1   TRBD2   TRBJ1-1   TRBJ1-2   TRBJ1-3   TRBJ1-4   TRBJ1-5   TRBJ1-6   TRBJ2-1   TRBJ2-2   TRBJ2-3   TRBJ2-4   TRBJ2-5   TRBJ2-6   TRBJ2-7   TRBV10-1   TRBV10-2   TRBV10-3   TRBV11-1   TRBV11-2   TRBV11-3   TRBV12-3   TRBV12-4   TRBV12-5   TRBV13   TRBV14   TRBV15   TRBV17   TRBV18   TRBV19   TRBV2   TRBV20-1   TRBV24-1   TRBV25-1   TRBV27   TRBV28   TRBV29-1   TRBV3-1   TRBV30   TRBV4-1   TRBV4-2   TRBV5-1   TRBV5-4   TRBV5-5   TRBV5-6   TRBV5-7   TRBV6-1   TRBV6-3   TRBV6-4   TRBV6-5   TRBV6-6   TRBV6-8   TRBV7-2   TRBV7-3   TRBV7-4   TRBV7-6   TRBV7-7   TRBV7-9   TRBV9   TRPV5   TRPV6   WEE2   WEE2-AS1   ZYX  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_141126407)_(145652221_?)dup
NC_000007.13:g.(?_140826207)_(145349314_?)dup
NC_000007.12:g.(?_140472676)_(144980247_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh387141,126,407 - 145,652,221CLINVAR
GRCh377140,826,207 - 145,349,314CLINVAR
Build 367140,472,676 - 144,980,247CLINVAR
Cytogenetic Map77q34-35CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9481230
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-07
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.